CRYAB, crystallin alpha B, 1410

N. diseases: 200; N. variants: 30
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894201
rs104894201 		0.763 0.280 11 111908934 missense variant T/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2002 2011